Canonical Allele Identifier: CA81781721

Gene: HGD

Linked Data

• ClinVar Variation Id: 2919345
• ClinVar RCV Id: RCV003607182
• dbSNP Id: rs1018199371
• gnomAD v2: 3-120357417-A-G
• gnomAD v4: 3-120638570-A-G
• MyVariant Identifiers: chr3:g.120357417A>G (hg19) ; chr3:g.120638570A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.120638570A>G , CM000665.2:g.120638570A>G	GRCh38
NC_000003.11:g.120357417A>G , CM000665.1:g.120357417A>G	GRCh37
NC_000003.10:g.121840107A>G	NCBI36
NG_011957.1:g.48912T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000283871.10:c.891T>C MANE Select	ENSP00000283871.5:p.Ile297=
ENST00000283871.9:c.891T>C	ENSP00000283871.5:p.Ile297=
ENST00000470321.1:n.231T>C
ENST00000475447.2:c.307+3019T>C
ENST00000492108.5:c.285+3019T>C	ENSP00000419838.1:n.285+3019T>C
ENST00000494453.1:c.311T>C
NM_000187.3:c.891T>C	NP_000178.2:p.Ile297=
XM_005247412.1:c.666T>C	XP_005247469.1:p.Ile222=
XM_005247413.1:c.891T>C	XP_005247470.1:p.Ile297=
XM_011512746.1:c.879+3019T>C	XP_011511048.1:n.879+3019T>C
XM_005247412.2:c.666T>C	XP_005247469.1:p.Ile222=
XM_005247413.2:c.891T>C	XP_005247470.1:p.Ile297=
XM_011512746.2:c.879+3019T>C	XP_011511048.1:n.879+3019T>C
XM_017006277.2:c.468T>C	XP_016861766.1:p.Ile156=
NM_000187.4:c.891T>C MANE Select	NP_000178.2:p.Ile297=